Shruti Marwaha

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Nicole M. Ferraro et al. · Nature Medicine · 2019 · 355 citations

Life Sciences, Genetics, Molecular Genetics +16

Temporal dynamics of the multi-omic response to endurance exercise training

David Amar, Nicole R. Gay, Pierre M. Jean Beltran et al. · Nature · 2024 · 242 citations · Full text

Life Sciences, Biochemistry, Physiology +17

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17